Variant report

Variant	rs547506050
Chromosome Location	chr14:80678451-80678452
allele	-/CTC
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr14:80678326-80678796	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr14:80678316-80678832	Hela-S3	cervix:	n/a	n/a
3	TBP	chr14:80678150-80678799	Hela-S3	cervix:	n/a	n/a
4	MAFK	chr14:80678332-80678815	Hela-S3	cervix:	n/a	n/a
5	GATA3	chr14:80678362-80678792	MCF-7	breast:	n/a	n/a
6	GATA3	chr14:80678352-80678725	T-47D	breast:	n/a	n/a
7	GATA3	chr14:80678029-80679098	A549	lung:	n/a	chr14:80678905-80678916
8	GATA3	chr14:80678330-80678741	T-47D	breast:	n/a	n/a
9	KAP1	chr14:80678345-80678748	HEK293	kidney:	n/a	n/a
10	CREB1	chr14:80678449-80678703	A549	lung:	n/a	n/a
11	REST	chr14:80678315-80678710	PFSK-1	brain:	n/a	n/a
12	EP300	chr14:80678409-80678737	GM12878	blood:	n/a	chr14:80678574-80678588
13	RAD21	chr14:80678376-80678624	IMR90	lung:	n/a	n/a
14	POLR2A	chr14:80678316-80678667	Hela-S3	cervix:	n/a	n/a
15	BRCA1	chr14:80678148-80678810	Hela-S3	cervix:	n/a	n/a
16	GATA2	chr14:80678381-80678755	HUVEC	blood vessel:	n/a	n/a
17	TAF1	chr14:80678266-80678763	PFSK-1	brain:	n/a	n/a
18	REST	chr14:80678446-80678555	PFSK-1	brain:	n/a	n/a
19	JUND	chr14:80678358-80678790	A549	lung:	n/a	n/a
20	POLR2A	chr14:80678419-80678525	MCF10A-Er-Src	breast:	n/a	n/a
21	BCL3	chr14:80678136-80678924	A549	lung:	n/a	chr14:80678579-80678588 chr14:80678212-80678221
22	PRDM1	chr14:80678230-80678816	Hela-S3	cervix:	n/a	chr14:80678577-80678592
23	REST	chr14:80678334-80678632	A549	lung:	n/a	n/a
24	GTF2F1	chr14:80678241-80678720	Hela-S3	cervix:	n/a	n/a
25	MAX	chr14:80678265-80678936	A549	lung:	n/a	n/a
26	POLR2A	chr14:80678346-80678581	A549	lung:	n/a	n/a
27	ATF3	chr14:80678234-80678806	A549	lung:	n/a	chr14:80678610-80678617 chr14:80678606-80678621 chr14:80678610-80678620 chr14:80678609-80678620 chr14:80678610-80678618
28	SPI1	chr14:80678215-80678725	GM12878	blood:	n/a	n/a
29	EP300	chr14:80678263-80678812	Hela-S3	cervix:	n/a	chr14:80678358-80678372 chr14:80678574-80678588
30	USF1	chr14:80678319-80678752	A549	lung:	n/a	n/a
31	SIN3AK20	chr14:80678291-80678674	A549	lung:	n/a	n/a
32	GATA3	chr14:80678049-80678989	SK-N-SH	brain:	n/a	chr14:80678905-80678916
33	POLR2A	chr14:80677951-80679024	PFSK-1	brain:	n/a	n/a
34	STAT3	chr14:80678388-80678780	Hela-S3	cervix:	n/a	chr14:80678426-80678438 chr14:80678469-80678481
35	FOSL2	chr14:80678230-80678881	A549	lung:	n/a	n/a
36	CEBPB	chr14:80678301-80678832	A549	lung:	n/a	n/a
37	POLR2A	chr14:80678259-80678764	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr14:80676930-80678772	Hela-S3	cervix:	n/a	n/a
39	USF2	chr14:80678243-80678738	Hela-S3	cervix:	n/a	n/a
40	CHD2	chr14:80678329-80678767	Hela-S3	cervix:	n/a	n/a
41	CEBPB	chr14:80678226-80678949	A549	lung:	n/a	n/a
42	GATA2	chr14:80678298-80678749	SH-SY5Y	brain:	n/a	n/a
43	GATA3	chr14:80678380-80678884	MCF-7	breast:	n/a	n/a
44	RFX5	chr14:80678143-80678841	Hela-S3	cervix:	n/a	n/a
45	TAF1	chr14:80678210-80678726	A549	lung:	n/a	n/a
46	EP300	chr14:80678451-80678724	GM12878	blood:	n/a	chr14:80678574-80678588
47	FOXA2	chr14:80678363-80678724	A549	lung:	n/a	n/a
48	GATA3	chr14:80678205-80678957	SK-N-SH	brain:	n/a	chr14:80678905-80678916
49	SPI1	chr14:80678387-80678704	GM12878	blood:	n/a	n/a
50	MAX	chr14:80677287-80678795	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:85899080..85899805-chr14:80678125..80678907,2	Hela-S3	cervix:

Variant related genes	Relation type
DIO2	TF binding region
ENSG00000165678	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045241	chr14:79885361-80734201	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv902113	chr14:80172094-80929699	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv534191	chr14:80674955-80736720	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv3406387	chr14:80677549-80678547	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:80675400-80678800	Active TSS	A549	lung
2	chr14:80675800-80678600	Active TSS	Fetal Brain Female	brain
3	chr14:80676000-80678600	Active TSS	Brain Cingulate Gyrus	brain
4	chr14:80676200-80678600	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr14:80676600-80678600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr14:80677200-80678600	Active TSS	Brain Substantia Nigra	brain
7	chr14:80677200-80678600	Active TSS	Psoas Muscle	Psoas
8	chr14:80677200-80678600	Active TSS	Skeletal Muscle Male	skeletal muscle
9	chr14:80677400-80678600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr14:80677400-80678600	Enhancers	Gastric	stomach
11	chr14:80677400-80678600	Active TSS	Rectal Smooth Muscle	rectum
12	chr14:80677400-80678600	Active TSS	HSMMtube	muscle
13	chr14:80677400-80678800	Active TSS	Duodenum Smooth Muscle	Duodenum
14	chr14:80677400-80678800	Active TSS	Rectal Mucosa Donor 31	rectum
15	chr14:80677400-80678800	Active TSS	Right Atrium	heart
16	chr14:80677600-80678600	Active TSS	Stomach Smooth Muscle	stomach
17	chr14:80677600-80678800	Active TSS	Brain Hippocampus Middle	brain
18	chr14:80677600-80678800	Active TSS	NH-A	brain
19	chr14:80677800-80678600	Active TSS	Aorta	Aorta
20	chr14:80677800-80678800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr14:80677800-80678800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr14:80677800-80678800	Active TSS	Muscle Satellite Cultured Cells	--
23	chr14:80677800-80678800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr14:80677800-80678800	Active TSS	Brain Angular Gyrus	brain
25	chr14:80677800-80680000	Weak transcription	Pancreas	Pancrea
26	chr14:80677800-80681400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr14:80677800-80681400	Weak transcription	Esophagus	oesophagus
28	chr14:80677800-80682000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr14:80678000-80678600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr14:80678000-80678600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr14:80678000-80678600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
32	chr14:80678000-80678600	Active TSS	HMEC	breast
33	chr14:80678000-80678800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
34	chr14:80678200-80678600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
35	chr14:80678200-80678600	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr14:80678200-80678600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr14:80678200-80678600	Active TSS	Fetal Kidney	kidney
38	chr14:80678200-80678600	Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr14:80678200-80678600	Flanking Active TSS	Fetal Lung	lung
40	chr14:80678200-80678600	Active TSS	Rectal Mucosa Donor 29	rectum
41	chr14:80678200-80678800	Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chr14:80678200-80678800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr14:80678200-80679000	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr14:80678200-80679000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr14:80678400-80678600	Enhancers	H1 Cell Line	embryonic stem cell
46	chr14:80678400-80678600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr14:80678400-80678600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr14:80678400-80678600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr14:80678400-80678600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr14:80678400-80678600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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